TY - ADVS AU - Humphries,Steve E. TI - Familial hyperchlolesterolaemia: a monogenic cause of early CHD T2 - Genetics of cardiovascular disease : genetic interactions in a multifactorial disease, PY - 2008/// CY - London PB - Henry Stewart Talks KW - Cardiovascular Diseases KW - genetics KW - Hypercholesterolemia N1 - Animated audio-visual presentation with synchronized narration; Title from title frames; Contents: Clinical diagnostic criteria -- Prevalence in UK -- Effects of statins on cholesterol and CHD risk lowering -- The 3 genes where mutations cause FH (LDLR, APOB, PCSK9) -- Clinical Genetics Diagnostic service for FH and examples in families -- Cascade testing for FH patients using LDL cholesterol levels -- The Overlap problem -- The Simon Broome FH register project and the high risk of early CHD in those with an LDLR and PCSK9 mutation -- The LDLR mutation database -- Ethical issues about genetic testing for FH -- Clinical questions in the management of FH -- FH testing and insurance; Access restricted to subscribers UR - https://hstalks.com/bs/1059/ UR - https://hstalks.com/bs/p/379/ ER -